-
1
-
-
0038728033
-
Mutational mechanisms of Williams-Beuren syndrome deletions
-
10.1086/376565, 1180575, 12796854
-
Bayes M, Magano LF, Rivera N, Flores R, Perez Jurado LA. Mutational mechanisms of Williams-Beuren syndrome deletions. American journal of human genetics 2003, 73(1):131-151. 10.1086/376565, 1180575, 12796854.
-
(2003)
American journal of human genetics
, vol.73
, Issue.1
, pp. 131-151
-
-
Bayes, M.1
Magano, L.F.2
Rivera, N.3
Flores, R.4
Perez Jurado, L.A.5
-
2
-
-
0031886974
-
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
-
10.1093/hmg/7.3.325, 9466987
-
Perez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Human molecular genetics 1998, 7(3):325-334. 10.1093/hmg/7.3.325, 9466987.
-
(1998)
Human molecular genetics
, vol.7
, Issue.3
, pp. 325-334
-
-
Perez Jurado, L.A.1
Wang, Y.K.2
Peoples, R.3
Coloma, A.4
Cruces, J.5
Francke, U.6
-
3
-
-
0037265835
-
Williams-Beuren syndrome: a model of recurrent genomic mutation
-
10.1159/000067836, 12638521
-
Perez Jurado AL. Williams-Beuren syndrome: a model of recurrent genomic mutation. Hormone research 2003, 59(Suppl 1):106-113. 10.1159/000067836, 12638521.
-
(2003)
Hormone research
, vol.59
, Issue.SUPPL. 1
, pp. 106-113
-
-
Perez Jurado, A.L.1
-
4
-
-
33745698871
-
Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour
-
10.1038/nrn1906, 16760918
-
Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nature reviews 2006, 7(5):380-393. 10.1038/nrn1906, 16760918.
-
(2006)
Nature reviews
, vol.7
, Issue.5
, pp. 380-393
-
-
Meyer-Lindenberg, A.1
Mervis, C.B.2
Berman, K.F.3
-
5
-
-
0032554898
-
Elastin is an essential determinant of arterial morphogenesis
-
10.1038/30522, 9607766
-
Li DY, Brooke B, Davis EC, Mecham RP, Sorensen LK, Boak BB, Eichwald E, Keating MT. Elastin is an essential determinant of arterial morphogenesis. Nature 1998, 393(6682):276-280. 10.1038/30522, 9607766.
-
(1998)
Nature
, vol.393
, Issue.6682
, pp. 276-280
-
-
Li, D.Y.1
Brooke, B.2
Davis, E.C.3
Mecham, R.P.4
Sorensen, L.K.5
Boak, B.B.6
Eichwald, E.7
Keating, M.T.8
-
6
-
-
10744229701
-
Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23
-
10.1097/01.GIM.0000076975.10224.67, 12865760
-
Hirota H, Matsuoka R, Chen XN, Salandanan LS, Lincoln A, Rose FE, Sunahara M, Osawa M, Bellugi U, Korenberg JR. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med 2003, 5(4):311-321. 10.1097/01.GIM.0000076975.10224.67, 12865760.
-
(2003)
Genet Med
, vol.5
, Issue.4
, pp. 311-321
-
-
Hirota, H.1
Matsuoka, R.2
Chen, X.N.3
Salandanan, L.S.4
Lincoln, A.5
Rose, F.E.6
Sunahara, M.7
Osawa, M.8
Bellugi, U.9
Korenberg, J.R.10
-
7
-
-
10744221593
-
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region
-
10.1002/ajmg.a.20496, 14556246
-
Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, et al. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. American journal of medical genetics 2003, 123A(1):45-59. 10.1002/ajmg.a.20496, 14556246.
-
(2003)
American journal of medical genetics
, vol.123 A
, Issue.1
, pp. 45-59
-
-
Morris, C.A.1
Mervis, C.B.2
Hobart, H.H.3
Gregg, R.G.4
Bertrand, J.5
Ensing, G.J.6
Sommer, A.7
Moore, C.A.8
Hopkin, R.J.9
Spallone, P.A.10
-
8
-
-
33847271581
-
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism
-
10.1136/jmg.2006.044537, 2598069, 16971481
-
Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, Gonzalez PJ, Manghi ER, Bondy P, et al. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. Journal of medical genetics 2007, 44(2):136-143. 10.1136/jmg.2006.044537, 2598069, 16971481.
-
(2007)
Journal of medical genetics
, vol.44
, Issue.2
, pp. 136-143
-
-
Edelmann, L.1
Prosnitz, A.2
Pardo, S.3
Bhatt, J.4
Cohen, N.5
Lauriat, T.6
Ouchanov, L.7
Gonzalez, P.J.8
Manghi, E.R.9
Bondy, P.10
-
9
-
-
61749083876
-
Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays
-
10.1002/ajmg.a.32652, 2650741, 19205026
-
Dai L, Bellugi U, Chen XN, Pulst-Korenberg AM, Jarvinen-Pasley A, Tirosh-Wagner T, Eis PS, Graham J, Mills D, Searcy Y, et al. Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. American journal of medical genetics 2009, 149A(3):302-314. 10.1002/ajmg.a.32652, 2650741, 19205026.
-
(2009)
American journal of medical genetics
, vol.149 A
, Issue.3
, pp. 302-314
-
-
Dai, L.1
Bellugi, U.2
Chen, X.N.3
Pulst-Korenberg, A.M.4
Jarvinen-Pasley, A.5
Tirosh-Wagner, T.6
Eis, P.S.7
Graham, J.8
Mills, D.9
Searcy, Y.10
-
10
-
-
27944486491
-
GTF2IRD1 in craniofacial development of humans and mice
-
10.1126/science.1116142, 16293761
-
Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, et al. GTF2IRD1 in craniofacial development of humans and mice. Science 2005, 310(5751):1184-1187. 10.1126/science.1116142, 16293761.
-
(2005)
Science
, vol.310
, Issue.5751
, pp. 1184-1187
-
-
Tassabehji, M.1
Hammond, P.2
Karmiloff-Smith, A.3
Thompson, P.4
Thorgeirsson, S.S.5
Durkin, M.E.6
Popescu, N.C.7
Hutton, T.8
Metcalfe, K.9
Rucka, A.10
-
11
-
-
40349085928
-
Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice
-
10.1111/j.1601-183X.2007.00343.x, 17680805
-
Young EJ, Lipina T, Tam E, Mandel A, Clapcote SJ, Bechard AR, Chambers J, Mount HT, Fletcher PJ, Roder JC, et al. Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice. Genes, brain, and behavior 2008, 7(2):224-234. 10.1111/j.1601-183X.2007.00343.x, 17680805.
-
(2008)
Genes, brain, and behavior
, vol.7
, Issue.2
, pp. 224-234
-
-
Young, E.J.1
Lipina, T.2
Tam, E.3
Mandel, A.4
Clapcote, S.J.5
Bechard, A.R.6
Chambers, J.7
Mount, H.T.8
Fletcher, P.J.9
Roder, J.C.10
-
12
-
-
58549088015
-
Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development
-
10.1073/pnas.0811531106, 2629217, 19109438
-
Enkhmandakh B, Makeyev AV, Erdenechimeg L, Ruddle FH, Chimge NO, Tussie-Luna MI, Roy AL, Bayarsaihan D. Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. Proceedings of the National Academy of Sciences of the United States of America 2009, 106(1):181-186. 10.1073/pnas.0811531106, 2629217, 19109438.
-
(2009)
Proceedings of the National Academy of Sciences of the United States of America
, vol.106
, Issue.1
, pp. 181-186
-
-
Enkhmandakh, B.1
Makeyev, A.V.2
Erdenechimeg, L.3
Ruddle, F.H.4
Chimge, N.O.5
Tussie-Luna, M.I.6
Roy, A.L.7
Bayarsaihan, D.8
-
13
-
-
74849123669
-
Induced chromosome deletions cause hypersociability and other features of Williams-Beuren Syndrome in Mice
-
10.1002/emmm.200900003, 20049703
-
Li HH, Roy M, Kuscuoglu U, Spencer CM, Halm B, Carlsmith Harrison K, Bayle JH, Splendore A, Ding F, Meltzer LA, et al. Induced chromosome deletions cause hypersociability and other features of Williams-Beuren Syndrome in Mice. EMBO Molecular Medicine 2009, 1:50-65. 10.1002/emmm.200900003, 20049703.
-
(2009)
EMBO Molecular Medicine
, vol.1
, pp. 50-65
-
-
Li, H.H.1
Roy, M.2
Kuscuoglu, U.3
Spencer, C.M.4
Halm, B.5
Carlsmith Harrison, K.6
Bayle, J.H.7
Splendore, A.8
Ding, F.9
Meltzer, L.A.10
-
14
-
-
36049029450
-
Signal-induced functions of the transcription factor TFII-I
-
2140948, 17976384
-
Roy AL. Signal-induced functions of the transcription factor TFII-I. Biochimica et biophysica acta 2007, 1769(11-12):613-621. 2140948, 17976384.
-
(2007)
Biochimica et biophysica acta
, vol.1769
, Issue.11-12
, pp. 613-621
-
-
Roy, A.L.1
-
15
-
-
0033517357
-
Murine fibroblasts lacking p21 undergo senescence and are resistant to transformation by oncogenic Ras
-
10.1038/sj.onc.1202880, 10490832
-
Pantoja C, Serrano M. Murine fibroblasts lacking p21 undergo senescence and are resistant to transformation by oncogenic Ras. Oncogene 1999, 18(35):4974-4982. 10.1038/sj.onc.1202880, 10490832.
-
(1999)
Oncogene
, vol.18
, Issue.35
, pp. 4974-4982
-
-
Pantoja, C.1
Serrano, M.2
-
16
-
-
0014058702
-
Simian virus 40 transformation and the period of cellular deoxyribonucleic acid synthesis
-
10.1099/0022-1317-1-1-115, 375511, 4318942
-
Todaro GJ, Green H. Simian virus 40 transformation and the period of cellular deoxyribonucleic acid synthesis. J Virol 1967, 1(1):115-119. 10.1099/0022-1317-1-1-115, 375511, 4318942.
-
(1967)
J Virol
, vol.1
, Issue.1
, pp. 115-119
-
-
Todaro, G.J.1
Green, H.2
-
17
-
-
0034954274
-
How to use the optical fractionator:an example based on the estimation of neurons in the hippocampal CA1 and CA3 regions of tree shrews
-
Keuker J. How to use the optical fractionator:an example based on the estimation of neurons in the hippocampal CA1 and CA3 regions of tree shrews. Brain Res Protoc 2001, 7:211-221.
-
(2001)
Brain Res Protoc
, vol.7
, pp. 211-221
-
-
Keuker, J.1
-
18
-
-
0035896617
-
Structure-function analysis of TFII-I. Roles of the N-terminal end, basic region, and I-repeats
-
10.1074/jbc.M008411200, 11113127
-
Cheriyath V, Roy AL. Structure-function analysis of TFII-I. Roles of the N-terminal end, basic region, and I-repeats. J Biol Chem 2001, 276(11):8377-8383. 10.1074/jbc.M008411200, 11113127.
-
(2001)
J Biol Chem
, vol.276
, Issue.11
, pp. 8377-8383
-
-
Cheriyath, V.1
Roy, A.L.2
-
19
-
-
48749084615
-
The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia
-
10.1096/fj.07-104455, 2493457, 18445785
-
Tapia-Paez I, Tammimies K, Massinen S, Roy AL, Kere J. The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia. Faseb J 2008, 22(8):3001-3009. 10.1096/fj.07-104455, 2493457, 18445785.
-
(2008)
Faseb J
, vol.22
, Issue.8
, pp. 3001-3009
-
-
Tapia-Paez, I.1
Tammimies, K.2
Massinen, S.3
Roy, A.L.4
Kere, J.5
-
20
-
-
0035934181
-
Biochemistry and biology of the inducible multifunctional transcription factor TFII-I
-
10.1016/S0378-1119(01)00625-4, 11674993
-
Roy AL. Biochemistry and biology of the inducible multifunctional transcription factor TFII-I. Gene 2001, 274(1-2):1-13. 10.1016/S0378-1119(01)00625-4, 11674993.
-
(2001)
Gene
, vol.274
, Issue.1-2
, pp. 1-13
-
-
Roy, A.L.1
-
21
-
-
33749656892
-
Opposing functions of TFII-I spliced isoforms in growth factor-induced gene expression
-
10.1016/j.molcel.2006.09.005, 17052463
-
Hakre S, Tussie-Luna MI, Ashworth T, Novina CD, Settleman J, Sharp PA, Roy AL. Opposing functions of TFII-I spliced isoforms in growth factor-induced gene expression. Mol Cell 2006, 24(2):301-308. 10.1016/j.molcel.2006.09.005, 17052463.
-
(2006)
Mol Cell
, vol.24
, Issue.2
, pp. 301-308
-
-
Hakre, S.1
Tussie-Luna, M.I.2
Ashworth, T.3
Novina, C.D.4
Settleman, J.5
Sharp, P.A.6
Roy, A.L.7
-
22
-
-
28544445933
-
Inhibition of TFII-I-dependent cell cycle regulation by p53
-
10.1128/MCB.25.24.10940-10952.2005, 1316948, 16314517
-
Desgranges ZP, Ahn J, Lazebnik MB, Ashworth T, Lee C, Pestell RC, Rosenberg N, Prives C, Roy AL. Inhibition of TFII-I-dependent cell cycle regulation by p53. Mol Cell Biol 2005, 25(24):10940-10952. 10.1128/MCB.25.24.10940-10952.2005, 1316948, 16314517.
-
(2005)
Mol Cell Biol
, vol.25
, Issue.24
, pp. 10940-10952
-
-
Desgranges, Z.P.1
Ahn, J.2
Lazebnik, M.B.3
Ashworth, T.4
Lee, C.5
Pestell, R.C.6
Rosenberg, N.7
Prives, C.8
Roy, A.L.9
-
23
-
-
33947217224
-
Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome
-
10.1016/j.nbd.2006.12.009, 17270452
-
van Hagen JM, Geest JN, Giessen RS, Lagers-van Haselen GC, Eussen HJ, Gille JJ, Govaerts LC, Wouters CH, de Coo IF, Hoogenraad CC, et al. Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome. Neurobiol Dis 2007, 26(1):112-124. 10.1016/j.nbd.2006.12.009, 17270452.
-
(2007)
Neurobiol Dis
, vol.26
, Issue.1
, pp. 112-124
-
-
van Hagen, J.M.1
Geest, J.N.2
Giessen, R.S.3
Lagers-van Haselen, G.C.4
Eussen, H.J.5
Gille, J.J.6
Govaerts, L.C.7
Wouters, C.H.8
de Coo, I.F.9
Hoogenraad, C.C.10
-
24
-
-
11844259986
-
Characterizing the musical phenotype in individuals with Williams Syndrome
-
Levitin DJ, Cole K, Chiles M, Lai Z, Lincoln A, Bellugi U. Characterizing the musical phenotype in individuals with Williams Syndrome. Child Neuropsychol 2004, 10(4):223-247.
-
(2004)
Child Neuropsychol
, vol.10
, Issue.4
, pp. 223-247
-
-
Levitin, D.J.1
Cole, K.2
Chiles, M.3
Lai, Z.4
Lincoln, A.5
Bellugi, U.6
-
25
-
-
0028973480
-
Asymmetrical ability
-
Hickok G, Bellugi U, Jones W. Asymmetrical ability. Science 1995, 270(5234):219-220.
-
(1995)
Science
, vol.270
, Issue.5234
, pp. 219-220
-
-
Hickok, G.1
Bellugi, U.2
Jones, W.3
|